Table 3.
Suggested screening categories for GATA2 mutation
| Pediatric neutropenia |
| Monocytopenia |
| B-cell or NK cell cytopenia |
| Dendritic cell deficiency |
| MDS with hypocellular bone marrow |
| Familial MDS/AML |
| PAP in absence of anti-GM-CSF autoantibodies |
| Recurrent extra genital HPV warts or severe refractory genital HPV |
| Severe viral infection (HSV, EBV) |
| Lymphedema, often later onset |
| Sensorineural deafness with immunodeficiency |
| Disseminated nontuberculous mycobacteria (NTM) |
| Disseminated or severe fungal infections |
| Pulmonary NTM without bronchiectasis |
Modified from Spinner et al. 53. MDS, myelodysplastic syndrome; AML, acute myeloid leukemia; HPV, human papillomavirus; PAP, pulmonary alveolar proteinosis; EBV, Epstein–Barr virus.